The founder of 123Genetix, Dr. Wayne Danter, explains why he started a social enterprise focused on empowering rare disease research:

My personal journey into rare diseases research began during previous research into p53, its role as a critical tumor suppressor in most cancers, and specifically its role in a rare germ cell disorder known as Li-Fraumeni Syndrome (LFS). Most people with LFS develop benign and malignant tumors in childhood and the risk continues to increase with age. Unfortunately, the tumors are difficult to treat, tend to recur and often shorten the lives of those affected.

About two years ago I had the good fortune to be invited to a rare diseases conference in California sponsored by the Global Genes organization. It was an impressive event with both heartwarming and tragic stories about individuals, families and loved ones living with rare diseases. I was struck by the strength and courage of all those involved, often in the face of severely limited resources and lack of a basic understanding of the disease process.

The obvious global unmet medical need plus my experience in medicine, pharmacology and systems biology lead directly to the creation of 123Genetix, a new social enterprise for empowering rare disease researchers.

It is the goal of 123Genetix to provide advanced computer simulations of many rare diseases, free of charge to not-for-profit researchers. These advanced models should empower researchers and lead to research that otherwise might not be possible.

Read about our rare disease computer simulation technology in the clinical spotlight of the spring edition of Rare Revolution Magazine.

]]>Wed, 02 May 2018 15:33:07 GMThttp://www.123genetix.com/123blog/using-computer-simulations-to-target-rare-diseasesThe list of sciences that make extensive use of computer simulations has grown over the years to include astrophysics, particle physics, materials science, engineering, climate science, evolutionary biology, ecology, sociology, and many others, including medicine.

It is now possible to test new drugs in “virtual humans” through advanced computer simulations. Today there is an incredible abundance of data that allows molecular systems to be modelled at an extraordinary level of detail. This enables us to understand the underlying biological systems better than ever before. Computer models representing human biology can show higher accuracy than animal testing models in predicting adverse drug effects, including toxicity. This improved accuracy (in addition to saving the animals from experimentation) can also lower the risk for patients during clinical trials and speed up the development of medicines for patients in urgent need.

At 123Genetix, we have developed a computer simulation platform targeting rare diseases specifically. Why rare diseases? Well for starters, about 10% of North Americans have a rare disease and more than half of those affected by rare diseases are children. Sadly, less than 50% of currently recognized rare diseases have organizations to advocate on behalf of patients and rare disease research.

More than 50% of people affected by rare diseases are children.

Compounding the problem, pharmaceutical and biotechnology companies are often reluctant to fund rare diseases research because of the perceived poor economics associated with the small target populations. ​

​Using elements of artificial intelligence, we are creating models of rare disease biology that can discover and identify patterns and relationships from complex datasets, and even effectively predict future outcomes. These models are designed to empower medical researchers to discover potential new research directions that may identify disease specific biomarkers that can lead to new and effective treatments for several rare diseases. Our first model will be for Rett Syndrome. We have already begun developing the model and we plan on providing it to a not-for-profit research organization free of charge. To do so, we need your help.

We're currently running a crowdfunding campaign on Indiegogo to raise funds to allow us to continue our work on our first model. We want to make a difference, and we hope you do too.

123Genetix has developed a big data solution called DeepNEU to empower rare disease researchers. Using elements of artificial intelligence, DeepNEU can create models of rare disease biology and discover and identify patterns and relationships from complex datasets, and even effectively predict future outcomes. These models are designed to empower medical researchers to discover potential new research directions that may identify disease specific biomarkers that can lead to new and effective treatments for several rare diseases.

“We want to advance rare disease research and transform the lives of those affected by rare diseases around the globe,” said Dr. Wayne Danter, Chief Science Officer and founder. “Rare disease research is often hindered by severely limited resources. We plan on doing something about this, but we need your help. This crowdfunding campaign will allow us to finalize our first rare disease model and provide it to a not-for-profit research organization free of charge. By enabling a better understanding of how various rare diseases work, we are hopeful that our predictive models will help with the identification of potential biomarkers, and ultimately help researchers to identify new, effective therapies.”​

​The crowdfunding proceeds will accelerate the roll-out of our predictive computer models of rare disease biology. More specifically, the campaign proceeds will be used to finalize the social enterprise’s rare disease model for RETT syndrome and to purchase additional hardware and update software, which would allow us to develop, validate and deploy several disease models at a time. Depending on the amount raised, the proceeds may also be used to begin the software development of a dedicated database for the storage of, and eventual global access to, a growing library of validated rare disease models.

If you can’t make a donation at this time, we would still appreciate it if you could share our campaign page on your social media accounts or do the old school word of mouth thing and tell your friends. If you do the social media thing, please include our #HackRare hash tag in your post.

The Unmet Need: A rare disease is generally a disease that affects a small percentage of the population. However, rare diseases are more common than you might think. There are more than 7,000 known rare diseases affecting over 300 million people worldwide. That’s almost the size of the population of the United States. In North America, rare diseases affect 8% to 10% of the population. About 80% of rare diseases have a genetic basis and 50% of rare diseases affect children. Unfortunately, less than 50% of known rare diseases have organizations to advocate on behalf of patients and their families. Compounding this ongoing problem is the ever increasing competition for limited and diminishing resources supporting rare diseases research.

​For the past 14 months our small team at 123Genetix has been working hard to fine-tune our proprietary computer modelling technology designed to empower and accelerate rare disease research. Now we are ready to unleash our AI-based platform and make a difference.

As you may know, rare disease research is often hindered by severely limited resources. Again, we plan on doing something about this, but we need help.

That’s why we’re launching our crowdfunding campaign on Indiegogo. The proceeds will allow us to finalize our first rare disease model, which we will provide to a not-for-profit rare disease research organization free of charge.

So, if you like what we're doing and can help out in this way, please make a donation of any amount on our campaign page. We will be issuing a news release tomorrow morning to announce this campaign to the wider public. We are hoping that we can get as many early donations as possible to show traction and help ensure success. If you are able to, could you please make a donation at your earliest convenience?

​If you can’t make a donation at this time, we would still appreciate it if you could help increase awareness by sharing our campaign page athttp://igg.me/at/hackrare with people you think might be interested in helping out.

​Dr. Wayne Danter is the founder of 123Genetix and is a pioneer in the evolving interface between artificial intelligence (“AI”) and pharmacotherapeutics. He has conducted extensive research on the medical application of AI technologies to disease diagnosis, outcome prediction and personalized therapies. Much of his research has focused on developing Hybrid AI models of the relationships between molecular structure and biological activity. His research has been published in peer-reviewed journals and he has been an invited presenter and panelist at numerous international meetings.

Prior to founding 123Genetix, Dr. Danter was the President, CEO and CSO of Critical Outcome Technologies Inc., which he also founded. While at Critical Outcome Technologies, he invented a proprietary, AI-based technology platform that utilizes a series of predictive computer models to identify compounds with a high probability of being successfully developed from disease specific drug discovery and chemical optimization through preclinical testing and early clinical testing.

Earlier in his career, Dr. Danter was an Associate Professor of Medicine at the University of Western Ontario (now Western University). His clinical focus at the University was in General Cardiology, Cardiovascular Diseases associated with HIV, and Cardiovascular Risk Management. Dr. Danter trained at the University of Western Ontario in Internal Medicine, Clinical Pharmacology and Critical Care.

At 123Genetix, we believe that AI/machine learning has the potential to play a major role in the world of rare disease research by empowering researchers to: (1) develop new disease hypotheses; (2) design and run experimental simulations to test those hypotheses; (3) write better grants and (4) identify potential disease specific biomarkers.

]]>Wed, 28 Feb 2018 16:52:10 GMThttp://www.123genetix.com/123blog/top-5-facts-about-rare-diseasesIt's Rare Disease Day today. Organizations around the globe are continuing their efforts to spread awareness about rare diseases, organizations, research efforts, and treatments. In honour of those efforts everywhere, we have put together this presentation on the Top 5 Facts About Rare Diseases. Please share.

]]>Mon, 08 Jan 2018 21:13:12 GMThttp://www.123genetix.com/123blog/how-rare-is-rareA rare disease is a disease that affects a small percentage of the population. But how rare does it have to be in order to be classified as a rare disease?​In the United States, there are more than 7,000 known rare diseases that together affect about ten percent of the population (that's roughly 30 million people). In the U.S. a disease is defined as “rare” if it affects fewer than 200,000 individuals, or roughly one in 1500. This definition was created by Congress in the Orphan Drug Act of 1983. Rare diseases became known as orphan diseases because drug companies were not interested in adopting them to develop treatments.

In Europe a disease or disorder is defined as rare when it affects less than 1 in 2000 citizens. While an individual disease might be labeled as “rare”, the total number of persons in Europe suffering from a rare diseases is estimated at over 30 million.

So, while the amount of people suffering from any one individual rare disease may be small, together the rare disease population is not rare at all.

]]>Thu, 04 Jan 2018 05:00:00 GMThttp://www.123genetix.com/123blog/the-challenging-rare-disease-research-landscapeThere are many challenges that exist when it comes to advancing knowledge of and treatment options for rare diseases. Pharmaceutical and biotechnology companies are often reluctant to fund rare diseases research because of the perceived poor economics associated with the small target populations. Even for those rare conditions where funding is plentiful and manufacturers of therapeutics are engaged, methodological and data constraints limit the ability to generate evidence on patient health outcomes. Contributing to the challenges are the small number of eligible participants for a given research study and the geographic dispersion of patients. As a result, relatively little is known about the clinical course of many rare diseases and only five percent of rare diseases have FDA approved therapies.

Contrary to some people’s thinking, we believe that there is considerable research interest, and if more money were to be made available for research on rare diseases, more researchers would be willing to devote their lives to that research.

For those who do devote their time and efforts to researching rare diseases, we created 123Genetix to help empower you and advance your efforts. We have developed a growing library of computational models of rare diseases around the globe. These models are easily customizable by the investigator and have a number of important applications, including:

Develop new disease hypotheses;

Design and run experimental simulations to test those hypotheses;

Write better grants; and,

Identify potential disease-specific biomarkers.

As part of the ongoing development and validation of this new technology we intend to make these models available free of charge to select not-for-profit researchers. In the meantime, we need your help in raising awareness of our organization and our technology in advance of our upcoming crowdfunding campaign in early 2018.

​Please feel free to share this blog post via social media and follow 123Genetix on Twitter and Facebook.

Together we can help ensure that rare does not mean forgotten.

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]]>Fri, 03 Nov 2017 04:00:00 GMThttp://www.123genetix.com/123blog/123genetix-to-attend-cord-2017-fall-conferenceDr. Wayne Danter, President and Founder of 123Genetix, will be attending the Canadian Organization for Rare Disorders’ (CORD) 2017 Fall Conference from November 6th to 7th at the Hyatt Regency in Toronto, Ontario.

A Moon Shot for Rare Disorders

The theme for this year’s conference is “A Moon Shot for Rare Disorders: Leave No one Behind.” Objectives of the conference are to create a shared understanding of the patient journey; to mobilize stakeholders around a common vision for Rare Disease Canada; and, to create a guiding framework to map current resources, define gaps, identify opportunities and challenges, and prioritize needs.

Interested parties wanting to meet with Dr. Danter during the conference should contact him by email at wdanter@123genetix.com.

About CORD

CORD is Canada’s national network for organizations representing all those with rare disorders. CORD provides a strong common voice to advocate for health policy and a healthcare system that works for those with rare disorders. CORD works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for all rare disorders in Canada. For more information, visit the organization’s website at www.raredisorders.ca.

About 123Genetix

123Genetix is an innovative new social enterprise created to empower rare disease research. At 123Genetix we believe that rare should not mean forgotten. To empower rare disease research we have created a growing library of computational models of rare diseases. These models are easily customizable by the investigator and have a number of important applications. They are designed for hypothesis generation, research and experimental planning, grant writing and novel targeted therapy identification.

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]]>Fri, 29 Sep 2017 15:20:51 GMThttp://www.123genetix.com/123blog/become-a-rare-disease-championRare disease research is hindered by severely limited resources. We plan on doing something about this, but we need your help.

Sadly, less than 50% of currently recognized rare diseases have organizations to advocate on behalf of patients and rare disease research. Compounding the problem, pharmaceutical and biotechnology companies are often reluctant to fund rare diseases research because of the perceived poor economics associated with the small target populations.

So, we are hoping to do a crowdfunding to help raise proceeds for us to provide our rare disease biology modeling technology to a non-profit researcher free of charge.

Our computational models of rare diseases are easily customizable by the investigator and have a number of important applications. They are designed for hypothesis generation, research and experimental planning, grant writing and identification of potential biomarkers.

Help us get the word out about our upcoming crowdfunding. Visit our page on Krowdster. Sign up there and get a unique referral link to provide to your friends. Refer the most friends to our follower list and you can pick a rare disease of your choice (non cancer) to be added to our shortlist of diseases to target first. Or, if you just want to receive updates about our service roll-out, sign up to our email list on our Contact Us page.